日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Altered nuclear envelope homeostasis is a key pathogenic event in C9ORF72-linked ALS/FTD

核膜稳态改变是 C9ORF72 关联 ALS/FTD 的关键致病事件

Riccardo Sirtori, Michelle Gregoire, Alicia Collins, Serena Santangelo, Bhavya Chatragadda, Robert Cullen, Antonia Ratti, Claudia Fallini

ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function

ALS相关的KIF5A突变会消除自身抑制,导致毒性功能获得。

Desiree M Baron,Adam R Fenton,Sara Saez-Atienzar,Anthony Giampetruzzi,Aparna Sreeram,Shankaracharya,Pamela J Keagle,Victoria R Doocy,Nathan J Smith,Eric W Danielson,Megan Andresano,Mary C McCormack,Jaqueline Garcia,Valérie Bercier,Ludo Van Den Bosch,Jonathan R Brent,Claudia Fallini,Bryan J Traynor,Erika L F Holzbaur,John E Landers

Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia

新型TUBA4A变异与家族性额颞叶痴呆症相关

Merel O Mol ,Tsz H Wong ,Shamiram Melhem ,Sreya Basu ,Riccardo Viscusi ,Niels Galjart ,Annemieke J M Rozemuller ,Claudia Fallini ,John E Landers ,Laura Donker Kaat ,Harro Seelaar ,Jeroen G J van Rooij ,John C van Swieten

Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis

肌动蛋白聚合的调节影响多种形式的肌萎缩侧索硬化症中的核质运输

Anthony Giampetruzzi, Eric W Danielson, Valentina Gumina, Maryangel Jeon, Sivakumar Boopathy, Robert H Brown, Antonia Ratti, John E Landers, Claudia Fallini

The RNA-binding protein FUS/TLS undergoes calcium-mediated nuclear egress during excitotoxic stress and is required for GRIA2 mRNA processing

RNA 结合蛋白 FUS/TLS 在兴奋毒性应激期间经历钙介导的核外流,并且是 GRIA2 mRNA 加工所必需的

Maeve Tischbein, Desiree M Baron, Yen-Chen Lin, Katherine V Gall, John E Landers, Claudia Fallini, Daryl A Bosco

TDP-43 and NOVA-1 RNA-binding proteins as competitive splicing regulators of the schizophrenia-associated TNIK gene

TDP-43 和 NOVA-1 RNA 结合蛋白作为精神分裂症相关 TNIK 基因的竞争性剪接调节剂

Valentina Gumina, Claudia Colombrita, Claudia Fallini, Patrizia Bossolasco, Anna Maria Maraschi, John E Landers, Vincenzo Silani, Antonia Ratti

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

囊泡运输蛋白膜联蛋白 A11 的突变与肌萎缩侧索硬化症有关

Bradley N Smith, Simon D Topp, Claudia Fallini, Hideki Shibata, Han-Jou Chen, Claire Troakes, Andrew King, Nicola Ticozzi, Kevin P Kenna, Athina Soragia-Gkazi, Jack W Miller, Akane Sato, Diana Marques Dias, Maryangel Jeon, Caroline Vance, Chun Hao Wong, Martina de Majo, Wejdan Kattuah, Jacqueline C

ALS-linked FUS exerts a gain of toxic function involving aberrant p38 MAPK activation

ALS 关联的 FUS 发挥与异常 p38 MAPK 激活相关的毒性功能

Reddy Ranjith K Sama, Claudia Fallini, Rodolfo Gatto, Jeanne E McKeon, Yuyu Song, Melissa S Rotunno, Saul Penaranda, Izrail Abdurakhmanov, John E Landers, Gerardo Morfini, Scott T Brady, Daryl A Bosco

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

肌萎缩侧索硬化症是家族性肌萎缩侧索硬化症的病因之一

Chi-Hong Wu, Claudia Fallini, Nicola Ticozzi, Pamela J Keagle, Peter C Sapp, Katarzyna Piotrowska, Patrick Lowe, Max Koppers, Diane McKenna-Yasek, Desiree M Baron, Jason E Kost, Paloma Gonzalez-Perez, Andrew D Fox, Jenni Adams, Franco Taroni, Cinzia Tiloca, Ashley Lyn Leclerc, Shawn C Chafe, Dev Man

The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth

ALS 疾病蛋白 TDP-43 在运动神经元轴突中主动运输并调节轴突生长

Claudia Fallini, Gary J Bassell, Wilfried Rossoll